Although the PDGFRA role in GIST and IFP pathogenesis [79] justifies the presence of these two tumor types in PDGFRA-mutant syndrome, the occurrence of GI lipomas (sporadic GI lipomas revealed PDGFRA WT [80]) and large hands, and the variability of the observed phenotypic assortment are presently unexplained. The gene discussed is PDGFRA; the disease is gastrointestinal stromal tumor.